Ocular Amyloidosis

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Findings

  • Orbit: Enlarged lacrimal glands, involvement of extraocular muscles (double vision, proptosis, restrictive)
  • Eyelids: Ptosis
  • Conjunctiva: Localised or diffuse yellowish waxy lesions
  • Cornea: Dry eye, variant of Lattice corneal dystrophy, Meretoja syndrome
  • Iris: Deposits at pupillary margin , fringed/scalloped pupil
  • Glaucoma: Secondary due to amyloid deposits in the trabecular meshwork
  • Lens: Deposits on the anterior surface of the lens
  • Vitreous: Glass wool-like opacities (usually visually disturbing)
  • Retina: Vitreous tufts adjacent to retinal vessels
  • Optic neuropathy (compressive, infiltrative) rare

Work-up

  • Family history
  • Slit lamp examination including fundoscopy
  • Imaging: CT/MRI of the orbit
  • Biopsy (conjunctival lesions or lacrimal gland)
  • Genetic work-up

Treatment

  • Orbit: Consider decompression
  • Conjunctival lesions: Lubrication (e.g., Lacrycon AT), +/-excision
  • Glaucoma: Topical, surgical
  • Lens: Cataract surgery
  • Vitreous opacities: Pars plana vitrectomy
  • Systemic: Adapted to type of amyloidosis

Sources

  • EyeWiki Ocular Amyloidosis
  • Kimura A, Ando E, Fukushima M, Koga T, Hirata A, Arimura K, Ando Y, Negi A, Tanihara H. Secondary glaucoma in patients with familial amyloidotic polyneuropathy. Arch Ophthalmol. 2003 Mar;121(3):351-6. doi: 10.1001/archopht.121.3.351. PMID: 12617705.